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Journal Article
Revista Espanola de Cardiologia, ISSN 0300-8932, 01/2013, Volume 66, Issue 1, pp. 68 - 70
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2014, Volume 164, Issue 5, pp. 1136 - 1142
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2015, Volume 23, Issue 7, pp. 907 - 914
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 1027 - 1042
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | UNITED-KINGDOM | POINT MUTATION | COLOBOMA | CONGENITAL CATARACT | GENES | GENETICS & HEREDITY | 1Q21.1 | MICROPHTHALMIA | CONNEXIN 50 | BETA-CATENIN | GENOME | Cataract | Phenotype | Genetic aspects | Genetic disorders | Cataracts | Eye | Animal models | Phenotypes | Missense mutation | Gap junctions | Anophthalmia | Mutation | Genotypes | Eye lens | Microphthalmia
Journal Article
Kidney International, ISSN 0085-2538, 08/2018, Volume 94, Issue 2, pp. 363 - 371
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Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 02/2019, Volume 14, Issue 1, pp. 59 - 7
Journal Article